ESPE Abstracts

Background: Increasing prevalence of obesity requires improvement in current therapeutic approaches. Multidisciplinary lifestyle intervention programs involving both children and their parents are showing promising results.Aim: To compare the efficacy of family-based multidisciplinary program with standard weight loss counseling program in obese children.Methods: The intervention group consisted of 119 obese children with BMI 85 kg...

Background: Being born small for gestational age (SGA) has a negative effect on health-related quality of life (HRQoL) and self-perception. This might be more negatively influenced by postponement of puberty using additional gonadotropin-releasing hormone analogue (GnRHa) treatment.Methods: 154 adolescents born SGA participating in a large Dutch growth hormone (GH) trial (75 with 2 years of GnRHa-treatment) completed the TNO-AZL Adults Quality of Life qu...

Background: GH treatment results in a decrease in fat mass (FM) and insulin sensitivity (Si), and an increase in lean body mass (LBM). Only limited data are available on the longitudinal changes after discontinuation of GH treatment in SGA adults, aged 21 years.Objective and hypotheses: To assess longitudinal changes in body composition (BC) and glucose homeostasis after stop of GH treatment in SGA adults.Method: 197 previously GH-...

Background: Prader-Willi Syndrome (PWS), due to loss of expression from genes within the PWS imprinted region at chromosome 15q11.2-13, is characterized by hypotonia and feeding intolerance in infancy with later development of hyperphagia and obesity. Growth hormone improves tone, body composition, and height and can be started in infancy. Morbidity and mortality in PWS include those secondary to hyperphagia and respiratory illness as well as a 17% reported incidence of sudden...

Background: Knowledge about the effect of GH treatment on adaptive functioning in children with Prader–Willi syndrome (PWS) is limited.Objective and hypotheses: The aim of this study was to investigate the effect of GH treatment on adaptive functioning in children with PWS.Method: Vineland Adaptive Behavior Scale (VABS) was assessed at start, at the end of the RCT, and after 7 years of GH treatment. In the RCT, 75 children (42...

Background: IGF1 is mainly sequestered in a 150 kDa ternary complex with IGFBP3 and the acid-labile subunit (ALS). Dissociation of IGF1 from the ternary complex is in part regulated by proteolysis of IGFBP3, which reduces its affinity for IGF1. Short children born SGA have lower IGF1 and IGFBP3 levels compared to healthy peers.Objective and hypotheses: To determine complex formation in healthy normal statured children, and assess variables influencing co...

Background: Children with Prader–Willi syndrome (PWS) attain high serum immunoreactive IGF1 levels during standard dose GH treatment, which leads to concern, but lowering the dose, deteriorates their body composition.Objective and hypotheses: To evaluate serum IGF1, IGFBP3 and acid-labile subunit (ALS) levels, complex formation and IGF-bioactivity in GH-treated PWS children. We hypothesized that GH-treated children with PWS have a normal IGF-bioacti...

Background: The Dutch HYPOthalamic and PITuitary gene (HYPOPIT) study investigates the genetic and non-genetic causes of isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). Former projects within the HYPOPIT study showed that only a small minority of the Dutch IGHD and CPHD cases could be explained by mutations in GH1, GHRHR, HMGA2 and CDK6 in IGHD patients and PROP1, HESX1, POU1F1, LHX3</...

Background: Standard assays for serum cortisol measurements determine total cortisol (TC) concentrations but not the unbound biologically active serum free cortisol (sFC). Measurement of TC would be greatly influenced by alteration in cortisol-binding globulin (CBG) concentrations. It is, therefore, important to determine sFC levels when CBG levels are either decreased or increased.Objective and hypotheses: To determine basal and glucagon-stimulated sFC ...

Background: Mixed gonadal dysgenesis (MGD) is the second most frequent cause of XY disorders of sex development (DSD). Genotype is either X/XY or XY, while the phenotype ranges from partial to complete gonadal dysgenesis, and from female to male external genitalia. Müllerian remnants are present in these patients because of insufficient or untimely foetal secretion of Müllerian inhibiting factor (MIF).Aim: To assess the therapeutic policy of ph...